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Article

Spectrum of CFTR mutations on Réunion Island: impact on neonatal screening.

Human biology - 1 Oct 2005

Bienvenu T, Viel M, Leroy C, Cartault F, Lesure J F, Renouil M

Abstract excerpt

The large heterogeneity in the cystic fibrosis (CF) gene is the main difficulty for genotype characterization. Numerous studies have reported considerable variations in frequencies of CF transmembrane conductance regulator (CFTR) mutations in different populations, such as African, Asian, or European populations. To completely characterize the spectrum of mutations in the CFTR gene in the Réunion Island...

Topics

Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Genetics, Population
Humans
Infant, Newborn
Mutation
Neonatal Screening
Polymorphism, Genetic
Reunion

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 16596947
DOI: 10.1353/hub.2006.0002

Genes

CFTR

Provenance

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